Once a disastrous disease with markedly shortened life expectancy, hemophilia is now both a treatable as well as insurable disease in most instances. It is important to realize that hemophilia not only comes in many types, but also in many degrees of severity. Other mortality factors, such as diseases which were contracted from actually receiving blood and blood products are substantially decreased as screening has become much more vigilant, and awareness of the disease by those affected with it has resulted in faster and more effective treatment of bleeding episodes.
The two major types of hemophilia generally recognized are hemophilia A (factor 8 deficiency) and hemophilia B (factor 9 deficiency). Hemophilia A represents 75-80 percent of hemophilia disease and affects about one in 5,000 people. The genetics is called X-linked recessive, meaning only males can actually come down with the disease and females may carry it but not actually be affected (this is true for hemophilia B as well). In addition to the common thought that hemophiliacs may die when they bleed from an external factor or trauma and blood cannot be replaced in an appropriate or timely manner, spontaneous bleeding into soft tissues, joints, and other locations can occur as early as from childhood on. Additionally those who have had the disease for many years, before blood screening became better and more technical, contracted HIV as well as hepatitis C from contaminated blood products which also affected their mortality and morbidity.
Hemophilia B (factor 9 deficiency) is also called Christmas disease and is less common (one in approximately 25,000 people affected) and less severe. Still, it can result in serious hemorrhage as a response to trauma. It also affects males only and can be carried by females. Even simple procedures such as removing a tooth or minor surgery can cause excessive bleeding in hemophiliacs. It is also important to know that the degree of factor deficiency is quite important in determining prognosis—mild cases do substantially better than moderate or severe ones.
There are other types of bleeding disorders of which we should be aware. Von Willebrand’s disease is similar to Hemophilia A but more common (close to one percent of the population affected) and less severe in symptoms. Unlike hemophilia A and B, the genetic abnormality is not associated with the X chromosome and can occur in males and females. There are three types of Von Willebrand’s, with type 1 affecting three-quarters of the cases and being the mildest in severity. Von Willebrand’s can also be acquired through cancer and blood malignancies, autoimmune disorders (such as lupus), thyroid disease, and with administration of certain medications including anti-seizure medications and antibiotics. Other types to be mentioned are deficiencies of factor 1, 2, 5, 7, 10 and 12 (there are 13 clotting factors overall) and factor 11 deficiency, also called hemophilia C, and commonest in Ashkenazi Jews.
Treatment is by replacement of the missing factor and careful control of situations that can cause bleeding. Trauma may require blood and factor replacement and careful fluid evaluation. Some cases that involve inhibitors and antibodies to transfused factors have to be recognized expediently and either avoided or treated aggressively. Medications that release factor stores or breakdown blood clots can also be used.
The prognosis and overall mortality with the various hemophilia conditions depend on the clotting factor levels, the frequency and severity of symptoms, and the treatment used. Other things underwriters look for are amount and duration of any hospital stays, complications, and the extent of any disabilities the hemophilias cause. Age is important—younger applicants have higher ratings in that their future course is unknown, as is severity of disease—severe cases are obviously much higher rated than mild. Ratings are also subject to negative HIV status, and recent hepatitis B and C testing is also a must. Von Willebrand’s with no symptoms or complications, and very mild hemophilia A or B, are usually the only conditions considered for a standard rating.
